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Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

Botstein, David, Risch, Neil·2003·Nature Genetics

DOI 10.1038/ng1090

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Abstract

The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have been characterized have clarified our understanding of the molecular basis of human genetic disease. The principles derived from these successes should be applied now to strategies aimed at finding the considerably more elusive genes that underlie complex disease phenotypes. The distribution of types of mutation in mendelian disease genes argues for serious consideration of the early application of a genomic-scale sequence-based approach to association studies and against complete reliance on a positional cloning approach based on a map of anonymous single nucleotide polymorphism haplotypes.

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Self-citation

Authors: Botstein, D., & Risch, N.
Affiliations: Stanford Medicine (US)
Kaiser Permanente (US)
Corresponding author: Botstein, David
ORCID: Botstein, David
Risch, Neil
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2003-03
Volume: 33
Issue: S3
Pages: 228-237
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1090
OpenAlex: W1985849948
Cited by: 1,503
References: 81
Citations by year: 2026: 4 · 2025: 11 · 2024: 20 · 2023: 24 · 2022: 17 · 2021: 29 · 2020: 44 · 2019: 46 · 2018: 47 · 2017: 54 · 2016: 36 · 2015: 58 · 2014: 61 · 2013: 83 · 2012: 72
FWCI: 15.86
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion, public-domain)
PubMed (publishedVersion)
Funders: National Institutes of Health
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: genotype-phenotype correlation, complex diseases, monogenic disorders, positional cloning, single nucleotide polymorphisms, haplotype mapping, mutation spectrum, association studies, gene mapping
MeSH terms: Alleles, Chromosome Mapping, Cloning, Molecular, Genotype, Humans, Mutation, Phenotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genomics, Genetic Diseases, Inborn, History, 20th Century, History, 21st Century

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Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

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